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Article

Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples.

Clinical chemistry and laboratory medicine - 28 Aug 2017

Belmonte Irene, Barrecheguren Miriam, Esquinas Cristina, Rodríguez Esther, Miravitlles Marc, Rodríguez-Frías Francisco

Abstract excerpt

BACKGROUND: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are usual. The aim of this study was to validate the use of buccal swab samples and serum circulating DNA for the complete laboratory study of AATD. METHODS: Sixteen...

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PMID: 28107169
DOI: 10.1515/cclm-2016-0842

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